OCLN

PanelMode of inheritanceDetails
6 panels
R-numbers: R57
Signed-off version 1.137
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Band-like calcification with simplified gyration and polymicrogyria, 251290
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Band-like calcification with simplified gyration and polymicrogyria 251290
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pseudo-TORCH syndrome 1 251290
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pseudo-TORCH syndrome 1, 251290 (includes profound developmental delay), Band-like calcification with simplified gyration and polymicrogyria
Component of the following Super Panels:
  • - Cerebral malformations
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Band-like calcification with simplified gyration and polymicrogyria 251290
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe developmental delay with microcephaly, Band-like calcification with simplified gyration and polymicrogyria, Band-like calcification with simplified gyration and polymicrogyria, 251290